Orphanet Rare Disease Ontology

Last uploaded: December 13, 2023
Preferred Name

Lhermitte-Duclos disease

Synonyms

Dysplastic gangliocytoma of the cerebellum

Definitions

A very rare disorder characterized by abnormal development and enlargement of the cerebellum, and an increased intracranial pressure.

ID

http://www.orpha.net/ORDO/Orphanet_65285

alternative_term

Dysplastic gangliocytoma of the cerebellum

LDD

definition

A very rare disorder characterized by abnormal development and enlargement of the cerebellum, and an increased intracranial pressure.

definition_citation

Orphanet

expertlink

https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=65285

has_age_of_onset

Adult

has_inheritance

Not applicable

Autosomal dominant

hasDbXref

OMIM:158350

ICD-10:Q04.8

ICD-11:2A00.21

UMLS:C0391826

label

Lhermitte-Duclos disease

notation

ORPHA:65285

part_of

http://www.orpha.net/ORDO/Orphanet_251934

http://www.orpha.net/ORDO/Orphanet_269523

http://www.orpha.net/ORDO/Orphanet_269567

http://www.orpha.net/ORDO/Orphanet_306498

prefixIRI

ORDO:Orphanet_65285

prefLabel

Lhermitte-Duclos disease

present_in

Worldwide AND has_point_prevalence_range : <1 / 1 000 000

Worldwide AND has_cases/families_value : 220.0 (Case)

treeView

http://www.orpha.net/ORDO/Orphanet_251934

http://www.orpha.net/ORDO/Orphanet_269523

http://www.orpha.net/ORDO/Orphanet_269567

http://www.orpha.net/ORDO/Orphanet_306498

subClassOf

http://www.orpha.net/ORDO/Orphanet_377788

http://www.orpha.net/ORDO/Orphanet_557493

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